Smad4^tm1Rob
Targeted Allele Detail

Summary

• Symbol: Smad4^tm1Rob
• Name: SMAD family member 4; targeted mutation 1, Elizabeth J Robertson
• MGI ID: MGI:3624262
• Synonyms: Smad4^CA, Smad4^f, Smad4^Flox, Smad4^RobCA
• Gene: Smad4 Location: Chr18:73772080-73836851 bp, - strand Genetic Position: Chr18, 49.51 cM
• Alliance: Smad4^tm1Rob page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:92066
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• The first codon was flanked with loxP sites. (J:92066)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1	Smad4^tm1Rob/Smad4^tm1.1Rob Tg(Hoxb7-cre)1Rob/0	involves: 129S/SvEv
cn2	Amhr2^tm3(cre)Bhr/Amhr2^+ Smad4^tm1Rob/Smad4^tm1.1Rob	involves: 129S/SvEv * C57BL/6J
cn3	Bmp7^tm6(cre)Rob/Bmp7^+ Smad4^tm1Rob/Smad4^tm1.1Rob	involves: 129S/SvEv * C57BL/6 * SJL
cn4	Smad4^tm1Rob/Smad4^tm1.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * CD-1

Phenotypes:

Affected Systems	cn1	cn2		cn3	cn4
show or hide all annotated terms Sex:
cellular		√			√
decreased oocyte number		√
absent primordial germ cells					√
digestive/alimentary system					√
absent foregut					√
absent hindgut					√
embryo					√
abnormal dorsal-ventral axis patterning					√
abnormal rostral-caudal axis patterning					√
abnormal rhombomere morphology					√
fused somites					√
abnormal allantois morphology					√
endocrine/exocrine glands		√
abnormal ovarian follicle morphology		√
abnormal granulosa cell morphology		√
decreased tertiary ovarian follicle number		√
abnormal ovarian folliculogenesis		√
abnormal cumulus expansion		√
absent cumulus expansion		√
abnormal secondary ovarian follicle morphology		√
increased secondary ovarian follicle number		√
growth/size/body				√
kidney cyst				√
homeostasis/metabolism		√	√
increased circulating progesterone level		√	√
mortality/aging	√			√	√
premature death	√
postnatal lethality, complete penetrance				√
perinatal lethality, incomplete penetrance				√
embryonic lethality during organogenesis, complete penetrance					√
nervous system					√
abnormal hindbrain development					√
abnormal rhombomere morphology					√
renal/urinary system	N			√
renal/urinary system phenotype	N
kidney cyst				√
decreased kidney collecting duct number				√
abnormal renal glomerulus morphology				√
abnormal kidney development				√
small kidney				√
hydroureter				√
reproductive system		√	√		√
decreased oocyte number		√
absent primordial germ cells					√
abnormal ovarian follicle morphology		√
abnormal granulosa cell morphology		√
decreased tertiary ovarian follicle number		√
abnormal ovarian folliculogenesis		√
abnormal cumulus expansion		√
absent cumulus expansion		√
abnormal secondary ovarian follicle morphology		√
increased secondary ovarian follicle number		√
decreased ovulation rate		√
decreased litter size		√	√
infertility		√	√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Mice Carrying this Mutation:	30 assay results
In Structures Affected by this Mutation:	12 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Smad4^tm1Rob

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Smad4 Mutation: 48 strains or lines available

References

• Original: J:92066 Chu GC, et al., Differential requirements for Smad4 in TGFbeta-dependent patterning of the early mouse embryo. Development. 2004 Aug;131(15):3501-12
• All: 31 reference(s)